Canonical Allele Identifier: CA2201615351
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362747C= , CM000678.2:g.1362747C= GRCh38
NC_000016.9:g.1412748C= , CM000678.1:g.1412748C= GRCh37
NC_000016.8:g.1352749C= NCBI36
NG_016985.1:g.15849C=
NG_033129.1:g.56958G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.840+5C=
ENST00000529110.2:c.825+5C= ENSP00000435349.2:n.825+5C=
ENST00000529957.6:n.799+5C=
ENST00000683366.1:c.*473+5C= ENSP00000507283.1:n.*473+5C=
ENST00000683887.1:c.789+5C= ENSP00000506886.1:n.789+5C=
ENST00000684100.1:n.735+5C=
ENST00000684126.1:n.875+5C=
ENST00000684688.1:n.1366+5C=
ENST00000204679.9:c.741+5C= MANE Select ENSP00000204679.4:n.741+5C=
ENST00000204679.8:c.741+5C= ENSP00000204679.4:n.741+5C=
ENST00000527076.1:n.1964+5C=
ENST00000527168.5:n.908+5C=
ENST00000529957.5:n.840+5C=
NM_032520.4:c.741+5C= NP_115909.1:n.741+5C=
XM_017023782.1:c.789+5C= XP_016879271.1:n.789+5C=
XM_017023783.1:c.381+5C= XP_016879272.1:n.381+5C=
NM_032520.5:c.741+5C= MANE Select NP_115909.1:n.741+5C=